ArticleJIMD reports2020
Neonatal presentation of COG6-CDG with prominent skin phenotype.
Article in JIMD reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Genome-Wide Association Study Identifies Candidate Genes for Body Size Traits in Wanyue Black Pigs.Animals : an open access journal from MDPI · 2025Article
- COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.Molecular genetics & genomic medicine · 2025Review
- Insights Into the Pathological Glycosylation Associated With COG6-CDG.Human mutation · 2025Article
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- The Swedish COG6-CDG experience and a comprehensive literature review.JIMD reports · 2023Article
- ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.Journal of inherited metabolic disease · 2022Article
- COG6-CDG: Novel variants and novel malformation.Birth defects research · 2022Article
- Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.Frontiers in genetics · 2021Article
- Neonatal presentation of COG6-CDG with prominent skin phenotype.JIMD reports · 2020Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many of the genetic childhood disorders leading to death in the perinatal period follow autosomal recessive inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Often, affected children die before a genetic diagnosis can be established, thereby precluding targeted carrier testing in parents and prenatal or preimplantation genetic diagnosis in further pregnancies. The clinical phenotype of congenital disorders of glycosylation (CDG) is very heterogeneous and ranges from relatively mild symptoms to severe multisystem dysfunction and even a fatal course. A very rare subtype, COG6-CDG, is caused by deficiency of subunit 6 of the conserved oligomeric Golgi complex and is usually characterized by growth retardation, developmental delay, microcephaly, liver and gastrointestinal disease, joint contractures and episodic fever. It has been proposed that a distinctive feature of COG6-CDG can be ectodermal signs such as hypohidrosis/hyperthermia, hyperkeratosis and tooth anomalies. In a Greek family, who had lost two children in the neonatal period, with prominent skin features initially resembling restrictive dermopathy, severe arthrogryposis, respiratory insufficiency and a rapid fatal course trio whole-exome sequencing revealed the homozygous nonsense mutation c.511C>T, p.(Arg171*) in the
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.